Diagnosing ASD’s in Children 12 Months Old

In School Psychology on Wednesday, 12 September 2012 at 17:14

ASDs Can Be Diagnosed in Patients as Young as 12 Months CME

Fran Lowry & Hien T. Nghiem, MD


Clinical Context

Autism-spectrum disorders (ASDs) are neurodevelopmental disorders diagnosed by clinical observation of core behavioral symptoms. The prevalence of ASDs is estimated to be approximately 1% of the general population and is typically diagnosed in the preschool years. However, it has been reported that behavioral risk signs of ASDs may be evident before 12 months of age.

By 9 to 12 months of age, infants who will eventually receive a diagnosis of ASD may demonstrate the absence of social communicative features, such as shared affective engagement, imitation, social orienting, and joint attention, and present with unusual sensory features such as repetitive play, sensory preoccupations, emotional dysregulation, hyporesponsiveness to novel stimuli, and atypical motor behaviors. The First Year Inventory (FYI) is a parent-report measure designed to identify 12-month-old infants at risk for ASD. FYI taps behaviors that indicate risk in the developmental domains of sensory–regulatory and social–communication functioning.

The aim of this study is to determine an effective FYI scoring cutoff for most accurately indentifying infants who are at risk for a later diagnosis of ASD. The aim was met by conducting a follow-up of 699 children at 3 years of age from a community sample whose parents completed the FYI when their children were 12 months old.

Study Synopsis and Perspective

A questionnaire for parents is a promising tool for identifying 12-month-old infants who are at risk for an eventual diagnosis of ASD, new research shows.

A longitudinal follow-up study showed that 31% of children identified by the inventory as being at risk for ASD at 12 months had a confirmed diagnosis by age 3 years.

In addition, 85% of the children identified at 12 months had a developmental disability or concern by age 3 years, coauthor Grace Baranek, PhD, from the University of North Carolina School of Medicine, Chapel Hill, told Medscape Medical News.

“These children have the advantage of being enrolled in an intervention sooner and being tracked sooner than they would normally be, because most of the screenings that are recommended by the American Academy of Pediatrics happen at 18 or 24 months of age,” Dr. Baranek said.

Led by Lauren M. Turner-Brown, PhD, who is also from the University of North Carolina School of Medicine, the study was published online July 10 in Autism: The International Journal of Research & Practice.

Critical Changes

The FYI was developed specifically for 12-month-old infants because this age seems to map onto a period of critical developmental and neurobiological changes that are occurring in many infants who will eventually be diagnosed with ASD, she explained.

The current study was carried out to determine the effectiveness of the inventory in identifying infants at risk for a later diagnosis of ASD. In it, the parents of the 699 children who had completed the FYI when their child was 12 months old completed the additional screening questionnaires when their child reached the age of 3 years.

The parents and children were recruited through a community mailing that was based on North Carolina birth records.

In addition to the FYI, parents received the Social Responsiveness Scale–Preschool Version and the Developmental Concerns Questionnaire, which asked specific questions about parent concerns and child diagnoses. They also received $5.00 to encourage participation in the study.

The inventory identified 6 children with ASD and 3 children with pervasive developmental disorder–not otherwise specified.

Sooner Is Better

A high score in the sensory regulatory domain, which looked at such things as unusual behaviors with play, repetitive behaviors, unusual responses to sensory things such as light and sounds, and day-to-day regulatory patterns such as feeding, sleeping, and eating, was an important predictor of a future diagnosis of ASD, Dr. Baranek said.

Scoring badly in the social communication domain, especially when accompanied by a high score in the sensory regulatory domain, was also predictive, she said. “What we are finding is that although we can identify a lot of children who go on to have autism through their lack of social communicative abilities, the sensory regulatory items help us to more specifically identify the kids with autism so we’re not overidentifying just children with language delay.”

Once the FYI tool is refined, Dr. Baranek said, she and her team would like to see it used in primary care settings at the 12-month baby check, where physicians, nurse practitioners, and early interventionists could screen the child and use the inventory as a basis for progressive surveillance.

“The sooner we can identify any child who has a concern, the sooner they can be referred for more comprehensive evaluation and be connected with support services,” she said.

Significant Impact

Autism Society board chairman Jim Ball agreed. Commenting on this work for Medscape Medical News, Ball said: “Early screening and diagnosis can have a significant impact in an individual’s life, leading to improved educational and social outcomes, as well as employment and independent living in adulthood.”

He added that it is a priority of the Autism Society “to ensure all families know the signs of autism, have access to expert diagnosticians, receive appropriate services, and transition effectively into adulthood.”

The study was funded in part by the National Institutes of Health, Autism Speaks, and the Ireland Family Foundation. Dr. Turner-Brown, Dr. Barane, and Ball have disclosed no relevant financial relationships.

Autism. Published online July 10, 2012.

Study Highlights

  • Families who participated in the FYI normative study and who gave consent to be recontacted were invited to participate in this longitudinal follow-up.
  • There were 2 phases: the initial FYI screening mailing at 12 months of age and the subsequent follow-up mailing at age 3 years.
  • At 3 years, parents of 699 children completed the Social Responsiveness Scale–Preschool version and the Developmental Concerns Questionnaire to determine developmental outcomes.
  • In addition, children deemed at risk for ASD on the basis of liberal cut points on the FYI, Social Responsiveness Scale–Preschool, and/or Developmental Concerns Questionnaire were invited for in-person diagnostic evaluations.
  • 38 families participated in the in-person diagnostic assessments. In addition to the FYI, Social Responsiveness Scale–Preschool, and Developmental Concerns Questionnaire, the 38 children who received further in-person diagnostic evaluation also completed the Mullen Scales of Early Learning, the Vineland Adaptive Behavior Scale, and the Autism Diagnostic Observation Schedule.
  • A “best estimate” diagnostic outcome was determined and divided into 1 of 4 categories: diagnosis of ASD; diagnosis of other developmental disability; no professional diagnosis, but developmental concerns noted or observed; and no developmental concerns.
  • 9 children had a confirmed diagnosis of ASD from the sample of 699 children, representing 1.3% of this sample.
  • A total of 43 children (6%) were in the diagnosed or treated group for non-ASD developmental problems.
  • An additional 82 (12%) children were in the developmental concerns group.
  • Finally, 574 (82%) of 699 children were in the no concerns group.
  • According to the receiver operating characteristic (ROC) analyses, “a total risk score…of 19.2, which is at or above the 96th percentile, was chosen as the best cutoff score.”
  • A second ROC analysis was performed to calculate the optimal cutoffs for each of the 2 FYI domains.
  • For the social communication domain, “a domain score of 22.5, which is at the 94th percentile, yielded the optimal classification of children with ASD at age 3.”
  • “For the sensory-regulatory domain, a score of 14.75, which is at the 88th percentile, yielded optimal classification of children with an ASD diagnosis at age 3.”
  • The ROC analyses determined that a 2-domain cutoff score yielded optimal classification of children: 31% of those meeting algorithm cutoffs had ASD and 85% had a developmental disability or concern by age 3 years.
  • Limitations of the study included the following:
    • lack of design as an epidemiological study,
    • lack of generalizability because the families who participated in the study tended to be more educated and less racially diverse,
    • that unidentified children were probably missed by current measures, and
    • the feasibility of such large-scale diagnostic protocols.

Clinical Implications

  • By 9 to 12 months of age, infants who will eventually receive a diagnosis of ASD may demonstrate the absence of social communicative features and the presence of unusual sensory features.
  • These results suggest that the FYI is a promising tool for identifying 12-month-old infants who are at risk for an eventual diagnosis of ASD.





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